-
1
-
-
77950207658
-
Cellular pathogenesis in sphingolipid storage disorders: the quest for new therapeutic approaches
-
Farfel-Becker, T. and Futerman, A.H. (2010) Cellular pathogenesis in sphingolipid storage disorders: the quest for new therapeutic approaches. Clin. Lipidol., 5, 255-265.
-
(2010)
Clin. Lipidol.
, vol.5
, pp. 255-265
-
-
Farfel-Becker, T.1
Futerman, A.H.2
-
2
-
-
77954225471
-
Common and uncommon pathogenic cascades in lysosomal storage diseases
-
Vitner, E.B., Platt, F.M. and Futerman, A.H. (2010) Common and uncommon pathogenic cascades in lysosomal storage diseases. J. Biol. Chem., 285, 20423-20427.
-
(2010)
J. Biol. Chem.
, vol.285
, pp. 20423-20427
-
-
Vitner, E.B.1
Platt, F.M.2
Futerman, A.H.3
-
3
-
-
0000216808
-
Gaucher Disease
-
In Scriver, C., Beaudet, A.L., Valle, D., Sly, W.S. and Childs, B. (eds), McGraw-Hill, New-York
-
Beutler, E. and Grabowski, G.A. (2001) Gaucher Disease. In Scriver, C., Beaudet, A.L., Valle, D., Sly, W.S. and Childs, B. (eds), The Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill, New-York, Vol. 3, pp. 3635-3668.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, vol.3
, pp. 3635-3668
-
-
Beutler, E.1
Grabowski, G.A.2
-
4
-
-
29944445980
-
Type 2 Gaucher disease: 15 new cases and review of the literature
-
French Type 2 Gaucher Disease Study Group.
-
Mignot, C., Doummar, D., Maire, I. and De Villemeur, T.B., French Type 2 Gaucher Disease Study Group. (2006) Type 2 Gaucher disease: 15 new cases and review of the literature. Brain Dev., 28, 39-48.
-
(2006)
Brain Dev.
, vol.28
, pp. 39-48
-
-
Mignot, C.1
Doummar, D.2
Maire, I.3
De Villemeur, T.B.4
-
5
-
-
78650813378
-
Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity
-
Gupta, N., Oppenheim, I.M., Kauvar, E.F., Tayebi, N. and Sidransky, E. (2011) Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity. Blood Cells Mol. Dis., 46, 75-84.
-
(2011)
Blood Cells Mol. Dis.
, vol.46
, pp. 75-84
-
-
Gupta, N.1
Oppenheim, I.M.2
Kauvar, E.F.3
Tayebi, N.4
Sidransky, E.5
-
6
-
-
0033381564
-
Ocular motor abnormalities in Gaucher disease
-
Harris, C.M., Taylor, D.S. and Vellodi, A. (1999) Ocular motor abnormalities in Gaucher disease. Neuropediatrics, 30, 289-293.
-
(1999)
Neuropediatrics
, vol.30
, pp. 289-293
-
-
Harris, C.M.1
Taylor, D.S.2
Vellodi, A.3
-
7
-
-
70350319531
-
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease
-
Sidransky, E., Nalls, M.A., Aasly, J.O., Aharon-Peretz, J., Annesi, G., Barbosa, E.R., Bar-Shira, A., Berg, D., Bras, J., Brice, A. et al. (2009) Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N. Engl. J. Med., 361, 1651-1661.
-
(2009)
N. Engl. J. Med.
, vol.361
, pp. 1651-1661
-
-
Sidransky, E.1
Nalls, M.A.2
Aasly, J.O.3
Aharon-Peretz, J.4
Annesi, G.5
Barbosa, E.R.6
Bar-Shira, A.7
Berg, D.8
Bras, J.9
Brice, A.10
-
8
-
-
0035049241
-
The efficacy of enzyme replacement therapy in patients with chronic neuronopathic Gaucher's disease
-
Altarescu, G., Hill, S., Wiggs, E., Jeffries, N., Kreps, C., Parker, C.C., Brady, R.O., Barton, N.W. and Schiffmann, R. (2001) The efficacy of enzyme replacement therapy in patients with chronic neuronopathic Gaucher's disease. J. Pediatr., 138, 539-547.
-
(2001)
J. Pediatr.
, vol.138
, pp. 539-547
-
-
Altarescu, G.1
Hill, S.2
Wiggs, E.3
Jeffries, N.4
Kreps, C.5
Parker, C.C.6
Brady, R.O.7
Barton, N.W.8
Schiffmann, R.9
-
9
-
-
17644422131
-
Gaucher disease: pathological mechanisms and modern management
-
Jmoudiak, M. and Futerman, A.H. (2005) Gaucher disease: pathological mechanisms and modern management. Br. J. Haematol., 129, 178-188.
-
(2005)
Br. J. Haematol.
, vol.129
, pp. 178-188
-
-
Jmoudiak, M.1
Futerman, A.H.2
-
10
-
-
0020320060
-
Accumulation of glucosylceramide and glucosylsphingosine (psychosine) in cerebrum and cerebellum in infantile and juvenile Gaucher disease
-
Nilsson, O. and Svennerholm, L. (1982) Accumulation of glucosylceramide and glucosylsphingosine (psychosine) in cerebrum and cerebellum in infantile and juvenile Gaucher disease. J. Neurochem., 39, 709-718.
-
(1982)
J. Neurochem.
, vol.39
, pp. 709-718
-
-
Nilsson, O.1
Svennerholm, L.2
-
11
-
-
0021707286
-
Neuropathology of the Norrbottnian type of Gaucher disease Morphological and biochemical studies.
-
Conradi, N.G., Sourander, P., Nilsson, O., Svennerholm, L. and Erikson, A. (1984) Neuropathology of the Norrbottnian type of Gaucher disease. Morphological and biochemical studies. Acta. Neuropathol., 65, 99-109.
-
(1984)
Acta. Neuropathol.
, vol.65
, pp. 99-109
-
-
Conradi, N.G.1
Sourander, P.2
Nilsson, O.3
Svennerholm, L.4
Erikson, A.5
-
12
-
-
0026778029
-
Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene
-
Tybulewicz, V.L., Tremblay, M.L., LaMarca, M.E., Willemsen, R., Stubblefield, B.K., Winfield, S., Zablocka, B., Sidransky, E., Martin, B.M. and Huang, S.P. (1992) Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene. Nature, 357, 407-410.
-
(1992)
Nature
, vol.357
, pp. 407-410
-
-
Tybulewicz, V.L.1
Tremblay, M.L.2
LaMarca, M.E.3
Willemsen, R.4
Stubblefield, B.K.5
Winfield, S.6
Zablocka, B.7
Sidransky, E.8
Martin, B.M.9
Huang, S.P.10
-
13
-
-
0033916912
-
Glucosylsphingosine accumulation in mice and patients with type 2 Gaucher disease begins early in gestation
-
Orvisky, E., Sidransky, E., McKinney, C.E., LaMarca, M.E., Samimi, R., Krasnewich, D., Martin, B.M. and Ginns, E.I. (2000) Glucosylsphingosine accumulation in mice and patients with type 2 Gaucher disease begins early in gestation. Pediatr. Res., 48, 233-237.
-
(2000)
Pediatr. Res.
, vol.48
, pp. 233-237
-
-
Orvisky, E.1
Sidransky, E.2
McKinney, C.E.3
LaMarca, M.E.4
Samimi, R.5
Krasnewich, D.6
Martin, B.M.7
Ginns, E.I.8
-
14
-
-
84865084107
-
Systemic delivery of a glucosylceramide synthase inhibitor reduces CNS substrates and increases lifespan in a mouse model of type 2 Gaucher disease
-
Cabrera-Salazar, M.A., DeRiso, M., Bercury, S.D., Li, L., Lydon, J.T., Weber, W., Pande, N., Cromwell, M.A., Copeland, D., Leonard, J. et al. (2012) Systemic delivery of a glucosylceramide synthase inhibitor reduces CNS substrates and increases lifespan in a mouse model of type 2 Gaucher disease. PLoS One, 7, e43310.
-
(2012)
PLoS One
, vol.7
-
-
Cabrera-Salazar, M.A.1
DeRiso, M.2
Bercury, S.D.3
Li, L.4
Lydon, J.T.5
Weber, W.6
Pande, N.7
Cromwell, M.A.8
Copeland, D.9
Leonard, J.10
-
15
-
-
0036387220
-
Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: correlation with phenotype and genotype
-
Orvisky, E., Park, J.K., LaMarca, M.E., Ginns, E.I., Martin, B.M., Tayebi, N. and Sidransky, E. (2002) Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: correlation with phenotype and genotype. Mol. Genet. Metab., 76, 262-270.
-
(2002)
Mol. Genet. Metab.
, vol.76
, pp. 262-270
-
-
Orvisky, E.1
Park, J.K.2
LaMarca, M.E.3
Ginns, E.I.4
Martin, B.M.5
Tayebi, N.6
Sidransky, E.7
-
16
-
-
0346218248
-
Toxicity of glucosylsphingosine (glucopsychosine) to cultured neuronal cells: a model system for assessing neuronal damage inGaucher disease type 2 and 3
-
Schueler, U.H., Kolter, T., Kaneski, C.R., Blusztajn, J.K., Herkenham,M., Sandhoff, K. and Brady, R.O. (2003) Toxicity of glucosylsphingosine (glucopsychosine) to cultured neuronal cells: a model system for assessing neuronal damage inGaucher disease type 2 and 3. Neurobiol.Dis., 14, 595-601.
-
(2003)
Neurobiol.Dis.
, vol.14
, pp. 595-601
-
-
Schueler, U.H.1
Kolter, T.2
Kaneski, C.R.3
Blusztajn, J.K.4
Herkenham, M.5
Sandhoff, K.6
Brady, R.O.7
-
18
-
-
0022494415
-
Type 2 and type 3 Gaucher disease: a morphological and biochemical study
-
Kaye, E.M., Ullman, M.D., Wilson, E.R. and Barranger, J.A. (1986) Type 2 and type 3 Gaucher disease: a morphological and biochemical study. Ann. Neurol., 20, 223-230.
-
(1986)
Ann. Neurol.
, vol.20
, pp. 223-230
-
-
Kaye, E.M.1
Ullman, M.D.2
Wilson, E.R.3
Barranger, J.A.4
-
19
-
-
79952607967
-
Spatial and temporal correlation between neuron loss and neuroinflammation in a mouse model of neuronopathic Gaucher disease
-
Farfel-Becker, T., Vitner, E.B., Pressey, S.N.R., Eilam, R., Cooper, J.D. and Futerman, A.H. (2011) Spatial and temporal correlation between neuron loss and neuroinflammation in a mouse model of neuronopathic Gaucher disease. Hum. Mol. Genet., 20, 1375-1386.
-
(2011)
Hum. Mol. Genet.
, vol.20
, pp. 1375-1386
-
-
Farfel-Becker, T.1
Vitner, E.B.2
Pressey, S.N.R.3
Eilam, R.4
Cooper, J.D.5
Futerman, A.H.6
-
20
-
-
36849057499
-
Murine models of acute neuronopathic Gaucher disease
-
Enquist, I.B., Lo Bianco, C., Ooka, A., Nilsson, E., Månsson, J.-E., Ehinger, M., Richter, J., Brady, R.O., Kirik, D. and Karlsson, S. (2007) Murine models of acute neuronopathic Gaucher disease. Proc. Natl Acad. Sci. USA, 104, 17483-17488.
-
(2007)
Proc. Natl Acad. Sci. USA
, vol.104
, pp. 17483-17488
-
-
Enquist, I.B.1
Lo Bianco, C.2
Ooka, A.3
Nilsson, E.4
Månsson, J.-E.5
Ehinger, M.6
Richter, J.7
Brady, R.O.8
Kirik, D.9
Karlsson, S.10
-
21
-
-
84861552789
-
Contribution of brain inflammation to neuronal cell death in neuronopathic forms of Gaucher's disease
-
Vitner, E.B., Farfel-Becker, T., Eilam, R., Biton, I. and Futerman, A.H. (2012) Contribution of brain inflammation to neuronal cell death in neuronopathic forms of Gaucher's disease. Brain, 135, 1724-1735.
-
(2012)
Brain
, vol.135
, pp. 1724-1735
-
-
Vitner, E.B.1
Farfel-Becker, T.2
Eilam, R.3
Biton, I.4
Futerman, A.H.5
-
22
-
-
3242703423
-
Neuropathology provides clues to the pathophysiology of Gaucher disease
-
Wong, K., Sidransky, E., Verma, A., Mixon, T., Sandberg, G.D., Wakefield, L.K., Morrison, A., Lwin, A., Colegial, C., Allman, J.M. et al. (2004) Neuropathology provides clues to the pathophysiology of Gaucher disease. Mol. Genet. Metab., 82, 192-207.
-
(2004)
Mol. Genet. Metab.
, vol.82
, pp. 192-207
-
-
Wong, K.1
Sidransky, E.2
Verma, A.3
Mixon, T.4
Sandberg, G.D.5
Wakefield, L.K.6
Morrison, A.7
Lwin, A.8
Colegial, C.9
Allman, J.M.10
-
23
-
-
0029006757
-
A biochemical and ultrastructural evaluation of the type 2 Gaucher mouse
-
Willemsen, R., Tybulewicz, V., Sidransky, E., Eliason, W.K., Martin, B.M., LaMarca, M.E., Reuser, A.J., Tremblay, M., Westphal, H. and Mulligan, R.C. (1995) A biochemical and ultrastructural evaluation of the type 2 Gaucher mouse. Mol. Chem. Neuropathol., 24, 179-192.
-
(1995)
Mol. Chem. Neuropathol.
, vol.24
, pp. 179-192
-
-
Willemsen, R.1
Tybulewicz, V.2
Sidransky, E.3
Eliason, W.K.4
Martin, B.M.5
LaMarca, M.E.6
Reuser, A.J.7
Tremblay, M.8
Westphal, H.9
Mulligan, R.C.10
-
24
-
-
33748746334
-
When do lasses (longevity assurance genes) become CerS (ceramide synthases)? Insights into the regulation of ceramide synthesis
-
Pewzner-Jung, Y., Ben-Dor, S. and Futerman, A.H. (2006) When do lasses (longevity assurance genes) become CerS (ceramide synthases)? Insights into the regulation of ceramide synthesis. J. Biol. Chem., 281, 25001-25005.
-
(2006)
J. Biol. Chem.
, vol.281
, pp. 25001-25005
-
-
Pewzner-Jung, Y.1
Ben-Dor, S.2
Futerman, A.H.3
-
25
-
-
80054079107
-
Sphingolipid and glycosphingolipid metabolic pathways in the era of sphingolipidomics
-
Merrill, A.H. (2011) Sphingolipid and glycosphingolipid metabolic pathways in the era of sphingolipidomics. Chem. Rev., 111, 6387-6422.
-
(2011)
Chem. Rev.
, vol.111
, pp. 6387-6422
-
-
Merrill, A.H.1
-
26
-
-
41949140023
-
Characterization of ceramide synthase 2: tissue distribution, substrate specificity, and inhibition by sphingosine 1-phosphate
-
Laviad, E.L., Albee, L., Pankova-Kholmyansky, I., Epstein, S., Park, H., Merrill, A.H. and Futerman, A.H. (2008) Characterization of ceramide synthase 2: tissue distribution, substrate specificity, and inhibition by sphingosine 1-phosphate. J. Biol. Chem., 283, 5677-5684.
-
(2008)
J. Biol. Chem.
, vol.283
, pp. 5677-5684
-
-
Laviad, E.L.1
Albee, L.2
Pankova-Kholmyansky, I.3
Epstein, S.4
Park, H.5
Merrill, A.H.6
Futerman, A.H.7
-
27
-
-
78649790713
-
The role of the ceramide acyl chain length in neurodegeneration: involvement of ceramide synthases
-
Ben-David, O. and Futerman, A.H. (2010) The role of the ceramide acyl chain length in neurodegeneration: involvement of ceramide synthases. Neuromolecular Med., 12, 341-350.
-
(2010)
Neuromolecular Med.
, vol.12
, pp. 341-350
-
-
Ben-David, O.1
Futerman, A.H.2
-
28
-
-
0022302720
-
Lipids of nervous tissue: composition and metabolism
-
Sastry, P.S. (1985) Lipids of nervous tissue: composition and metabolism. Prog. Lipid Res., 24, 69-176.
-
(1985)
Prog. Lipid Res.
, vol.24
, pp. 69-176
-
-
Sastry, P.S.1
-
29
-
-
55949119836
-
Emerging pathways in genetic Parkinson's disease: potential role of ceramide metabolism in Lewy body disease
-
Bras, J., Singleton, A., Cookson, M.R. and Hardy, J. (2008) Emerging pathways in genetic Parkinson's disease: potential role of ceramide metabolism in Lewy body disease. FEBS J., 275, 5767-5773.
-
(2008)
FEBS J.
, vol.275
, pp. 5767-5773
-
-
Bras, J.1
Singleton, A.2
Cookson, M.R.3
Hardy, J.4
-
30
-
-
67650087652
-
Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease
-
Neumann, J., Bras, J., Deas, E., O'Sullivan, S.S., Parkkinen, L., Lachmann, R.H., Li, A., Holton, J., Guerreiro, R., Paudel, R. et al. (2009) Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. Brain, 132, 1783-1794.
-
(2009)
Brain
, vol.132
, pp. 1783-1794
-
-
Neumann, J.1
Bras, J.2
Deas, E.3
O'Sullivan, S.S.4
Parkkinen, L.5
Lachmann, R.H.6
Li, A.7
Holton, J.8
Guerreiro, R.9
Paudel, R.10
-
31
-
-
0014348167
-
The fine structure of the cerebroside occurring in Gaucher's disease
-
Lee, R.E. (1968) The fine structure of the cerebroside occurring in Gaucher's disease. Proc. Natl Acad. Sci. USA, 61, 484-489.
-
(1968)
Proc. Natl Acad. Sci. USA
, vol.61
, pp. 484-489
-
-
Lee, R.E.1
-
32
-
-
0015897309
-
The bilayer nature of deposits occurring in Gaucher's disease
-
Lee, R.E., Worthington, C.R. and Glew, R.H. (1973) The bilayer nature of deposits occurring in Gaucher's disease. Arch. Biochem. Biophys., 159, 259-266.
-
(1973)
Arch. Biochem. Biophys.
, vol.159
, pp. 259-266
-
-
Lee, R.E.1
Worthington, C.R.2
Glew, R.H.3
-
33
-
-
0003864379
-
The Fine Structure of the Nervous System
-
Oxford University Press, New York.
-
Peters, A., Palay, S.L. and Webster, H.D. (1991) The Fine Structure of the Nervous System. Oxford University Press, New York.
-
(1991)
-
-
Peters, A.1
Palay, S.L.2
Webster, H.D.3
-
34
-
-
81455128242
-
Animal models for Gaucher disease research
-
Farfel-Becker, T., Vitner, E.B. and Futerman, A.H. (2011) Animal models for Gaucher disease research. Dis. Model Mech., 4, 746-752.
-
(2011)
Dis. Model Mech.
, vol.4
, pp. 746-752
-
-
Farfel-Becker, T.1
Vitner, E.B.2
Futerman, A.H.3
-
35
-
-
77950142606
-
Staining of Lipids by the Periodic-Acid-Schiff Reaction
-
Wolman, M. (1950) Staining of Lipids by the Periodic-Acid-Schiff Reaction. Proc. Soc. Exp. Biol. Med., 75, 583-585.
-
(1950)
Proc. Soc. Exp. Biol. Med.
, vol.75
, pp. 583-585
-
-
Wolman, M.1
-
36
-
-
0035751870
-
Immunohistochemical and ultrastructural features of Gaucher's cells-five case reports
-
Bogoeva, B. and Petrusevska, G. (2001) Immunohistochemical and ultrastructural features of Gaucher's cells-five case reports. Acta Med. Croatica, 55, 131-134.
-
(2001)
Acta Med. Croatica
, vol.55
, pp. 131-134
-
-
Bogoeva, B.1
Petrusevska, G.2
-
37
-
-
0008885171
-
The neuropathology of infantile Gaucher's disease
-
Norman, R.M., Urich, H. and Lloyd, O.C. (1956) The neuropathology of infantile Gaucher's disease. J. Pathol. Bacteriol., 72, 121-131.
-
(1956)
J. Pathol. Bacteriol.
, vol.72
, pp. 121-131
-
-
Norman, R.M.1
Urich, H.2
Lloyd, O.C.3
-
38
-
-
0028985127
-
Periodic acid-Schiff (PAS)-positive deposits in brain following kainic acid-induced seizures: relationships to fos induction, neuronal necrosis, reactive gliosis, and blood-brain barrier breakdown
-
Bennett, S.A., Stevenson, B., Staines, W.A. and Roberts, D.C. (1995) Periodic acid-Schiff (PAS)-positive deposits in brain following kainic acid-induced seizures: relationships to fos induction, neuronal necrosis, reactive gliosis, and blood-brain barrier breakdown. Acta Neuropathol., 89, 126-138.
-
(1995)
Acta Neuropathol.
, vol.89
, pp. 126-138
-
-
Bennett, S.A.1
Stevenson, B.2
Staines, W.A.3
Roberts, D.C.4
-
39
-
-
84874761253
-
Substrate compositional variation with tissue/region and Gba1 mutations in mouse models-implications for Gaucher disease
-
Sun, Y., Zhang, W., Xu, Y.-H., Quinn, B., Dasgupta, N., Liou, B., Setchell, K.D.R. and Grabowski, G.A. (2013) Substrate compositional variation with tissue/region and Gba1 mutations in mouse models-implications for Gaucher disease. PLoS One, 8, e57560.
-
(2013)
PLoS One
, vol.8
-
-
Sun, Y.1
Zhang, W.2
Xu, Y.-H.3
Quinn, B.4
Dasgupta, N.5
Liou, B.6
Setchell, K.D.R.7
Grabowski, G.A.8
-
40
-
-
34548329395
-
The metabolism and function of sphingolipids and glycosphingolipids
-
Lahiri, S. and Futerman, A.H. (2007) The metabolism and function of sphingolipids and glycosphingolipids. Cell. Mol. Life Sci., 64, 2270-2284.
-
(2007)
Cell. Mol. Life Sci.
, vol.64
, pp. 2270-2284
-
-
Lahiri, S.1
Futerman, A.H.2
-
41
-
-
0038607434
-
Glucosylceramide and glucosylsphingosine modulate calcium mobilization from brain microsomes via different mechanisms
-
Lloyd-Evans, E. (2003) Glucosylceramide and glucosylsphingosine modulate calcium mobilization from brain microsomes via different mechanisms. J. Biol. Chem., 278, 23594-23599.
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 23594-23599
-
-
Lloyd-Evans, E.1
-
42
-
-
0014093356
-
Fine structure of central nervous system in early infantile Gaucher's disease
-
Adachi, M., Wallace, B.J., Schneck, L. and Volk, B.W. (1967) Fine structure of central nervous system in early infantile Gaucher's disease. Arch Pathol., 83, 513-526.
-
(1967)
Arch Pathol.
, vol.83
, pp. 513-526
-
-
Adachi, M.1
Wallace, B.J.2
Schneck, L.3
Volk, B.W.4
-
43
-
-
85007892586
-
Pathomorphology of lysosomal storage inclusions in the reticuloendothelial cells of sphingolipidosis
-
Takahashi, K., Terashima, K., Hakozaki, H., Naito, M. and Kojima, M. (1978) Pathomorphology of lysosomal storage inclusions in the reticuloendothelial cells of sphingolipidosis. Acta Histochem. Cytochem., 11, 286-315.
-
(1978)
Acta Histochem. Cytochem.
, vol.11
, pp. 286-315
-
-
Takahashi, K.1
Terashima, K.2
Hakozaki, H.3
Naito, M.4
Kojima, M.5
-
44
-
-
0025602632
-
Light microscopic and ultrastructural study on CNS lesions in infantile Gaucher's disease
-
Cervos-Navarro, J. and Zimmer, C. (1990) Light microscopic and ultrastructural study on CNS lesions in infantile Gaucher's disease. Clin. Neuropathol., 9, 310-313.
-
(1990)
Clin. Neuropathol.
, vol.9
, pp. 310-313
-
-
Cervos-Navarro, J.1
Zimmer, C.2
-
45
-
-
0033618336
-
Elevation of intracellular glucosylceramide levels results in an increase in endoplasmic reticulum density and in functional calcium stores in cultured neurons
-
Korkotian, E., Schwarz, A., Pelled, D., Schwarzmann, G., Segal, M. and Futerman, A.H. (1999) Elevation of intracellular glucosylceramide levels results in an increase in endoplasmic reticulum density and in functional calcium stores in cultured neurons. J. Biol. Chem., 274, 21673-21678.
-
(1999)
J. Biol. Chem.
, vol.274
, pp. 21673-21678
-
-
Korkotian, E.1
Schwarz, A.2
Pelled, D.3
Schwarzmann, G.4
Segal, M.5
Futerman, A.H.6
-
46
-
-
64549159732
-
No evidence for activation of the unfolded protein response in neuronopathic models of Gaucher disease
-
Farfel-Becker, T., Vitner, E., Dekel, H., Leshem, N., Enquist, I.B., Karlsson, S. and Futerman, A.H. (2009) No evidence for activation of the unfolded protein response in neuronopathic models of Gaucher disease. Hum. Mol. Genet., 18, 1482-1488.
-
(2009)
Hum. Mol. Genet.
, vol.18
, pp. 1482-1488
-
-
Farfel-Becker, T.1
Vitner, E.2
Dekel, H.3
Leshem, N.4
Enquist, I.B.5
Karlsson, S.6
Futerman, A.H.7
-
47
-
-
84862602473
-
Autophagy in lysosomal storage disorders
-
Lieberman, A.P., Puertollano, R., Raben, N., Slaugenhaupt, S., Walkley, S.U. and Ballabio, A. (2012) Autophagy in lysosomal storage disorders. Autophagy, 8, 719-730.
-
(2012)
Autophagy
, vol.8
, pp. 719-730
-
-
Lieberman, A.P.1
Puertollano, R.2
Raben, N.3
Slaugenhaupt, S.4
Walkley, S.U.5
Ballabio, A.6
-
48
-
-
84878811164
-
Mitochondria and quality control defects in a mouse model of Gaucher disease-links to Parkinson's disease
-
Osellame, L.D., Rahim, A.A., Hargreaves, I.P., Gegg, M.E., Richard-Londt, A., Brandner, S., Waddington, S.N., Schapira, A.H.V. and Duchen, M.R. (2013)Mitochondria and quality control defects in a mouse model of Gaucher disease-links to Parkinson's disease. Cell Metab., 17, 941-953.
-
(2013)
Cell Metab.
, vol.17
, pp. 941-953
-
-
Osellame, L.D.1
Rahim, A.A.2
Hargreaves, I.P.3
Gegg, M.E.4
Richard-Londt, A.5
Brandner, S.6
Waddington, S.N.7
Schapira, A.H.V.8
Duchen, M.R.9
-
49
-
-
84873283543
-
The Non-lysosomal-glucosidase GBA2 Is a Non-integral membrane-associated protein at the endoplasmic reticulum (ER) and golgi
-
Korschen, H.G., Yildiz, Y., Raju, D.N., Schonauer, S., Bonigk, W., Jansen, V., Kremmer, E., Kaupp, U.B. and Wachten, D. (2013) The Non-lysosomal-glucosidase GBA2 Is a Non-integral membrane-associated protein at the endoplasmic reticulum (ER) and golgi. J. Biol. Chem., 288, 3381-3393.
-
(2013)
J. Biol. Chem.
, vol.288
, pp. 3381-3393
-
-
Korschen, H.G.1
Yildiz, Y.2
Raju, D.N.3
Schonauer, S.4
Bonigk, W.5
Jansen, V.6
Kremmer, E.7
Kaupp, U.B.8
Wachten, D.9
-
50
-
-
0027996444
-
Analysis of glucocerebrosidase activity using N-(1-[14C]hexanoyl)-D-erythroglucosylsphingosine demonstrates a correlation between levels of residual enzyme activity and the type of Gaucher disease
-
Meivar-Levy, I., Horowitz, M. and Futerman, A.H. (1994) Analysis of glucocerebrosidase activity usingN-(1-[14C]hexanoyl)-D-erythroglucosylsphingosine demonstrates a correlation between levels of residual enzyme activity and the type of Gaucher disease. Biochem. J., 303, 377-382
-
(1994)
Biochem. J.
, vol.303
, pp. 377-382
-
-
Meivar-Levy, I.1
Horowitz, M.2
Futerman, A.H.3
-
51
-
-
33845261493
-
A rapid method of total lipid extraction and purification
-
Bligh, E.G. and Dyer, W.J. (1959) A rapid method of total lipid extraction and purification. Can. J. Biochem. Physiol., 37, 911-917.
-
(1959)
Can. J. Biochem. Physiol.
, vol.37
, pp. 911-917
-
-
Bligh, E.G.1
Dyer, W.J.2
-
52
-
-
68349095535
-
Quantitative analysis of sphingolipids for lipidomics using triple quadrupole and quadrupole linear ion trap mass spectrometers
-
Shaner, R.L., Allegood, J.C., Park, H., Wang, E., Kelly, S., Haynes, C.A., Sullards, M.C. and Merrill, A.H. (2009) Quantitative analysis of sphingolipids for lipidomics using triple quadrupole and quadrupole linear ion trap mass spectrometers. J. Lipid Res., 50, 1692-1707.
-
(2009)
J. Lipid Res.
, vol.50
, pp. 1692-1707
-
-
Shaner, R.L.1
Allegood, J.C.2
Park, H.3
Wang, E.4
Kelly, S.5
Haynes, C.A.6
Sullards, M.C.7
Merrill, A.H.8
-
53
-
-
80255132948
-
Analysis of mammalian sphingolipids by liquid chromatography tandem mass spectrometry (LC-MS/MS) and tissue imaging mass spectrometry (TIMS)
-
Sullards, M.C., Liu, Y., Chen, Y. and Merrill, A.H. (2011) Analysis of mammalian sphingolipids by liquid chromatography tandem mass spectrometry (LC-MS/MS) and tissue imaging mass spectrometry (TIMS). Biochim. Biophys. Acta, 1811, 838-853.
-
(2011)
Biochim. Biophys. Acta
, vol.1811
, pp. 838-853
-
-
Sullards, M.C.1
Liu, Y.2
Chen, Y.3
Merrill, A.H.4
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